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Fetal anomalies v0.143 | CRYAA | Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, the Mode of inheritance was listed as Biallelic for 'CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1' and Monoallelic for 'CATARACT, NUCLEAR'. Clinical review confirmed that CRYAA should be on the panel with both biallelic and monoallelic modes of inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.143 | CRYAA | Rebecca Foulger Mode of inheritance for gene: CRYAA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRYAA | Rebecca Foulger edited their review of gene: CRYAA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on the panel with both AD and AR modes of inheritance.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CRYAA | Rebecca Foulger commented on gene: CRYAA: DDG2P rating in original PAGE list: Confirmed for CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 and Confirmed for CATARACT, NUCLEAR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | CRYAA | Rebecca Foulger reviewed gene: CRYAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | CRYAA | Rebecca Foulger Added phenotypes CATARACT, NUCLEAR for gene: CRYAA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | CRYAA |
Rebecca Foulger gene: CRYAA was added gene: CRYAA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 |